অনুসন্ধান ফলাফলগুলি - Joseph Devaney

P635: Long read sequencing for the analysis of repeat expansion disorders অনুযায়ী April Berlyoung, Jessica Noya, Aaron Johnson, Julianna Spangler, Rhonda Brandon, Kathleen Hruska, Lucas Lochovsky, Jason Chin, Gustavo Stolovitzky, Scott Newman, Joseph Devaney

সম্পূর্ণ পাঠ পাওয়ার জন্য

P640: Amplification and long-read sequencing of the mitochondrial genome অনুযায়ী Julianna Spangler, Aaron Johnson, Jessica Noya, Shamila Yusuff, Rhonda Brandon, Kathleen Hruska, Lucas Lochovsky, Jason Chin, Gustavo Stolovitzky, Scott Newman, Joseph Devaney

সম্পূর্ণ পাঠ পাওয়ার জন্য

P634: Clinical impact of RNA sequencing on VUS resolution in a diverse rare disease cohort of over 100,000 patients* অনুযায়ী Melanie Napier, Elizabeth Williams, Shamila Yusuff, Adi Reich, Hua Gao, Jacob Zyskind, Julianna Spangler, Katie Schafer, Bethany Friedman, Paul Kruszka, Joseph Devaney, Britt Johnson

সম্পূর্ণ পাঠ পাওয়ার জন্য

O26: Resolution of large complex VNTRs with HiFi sequencing: Applications in LPA Kringle IV-type 2 repeat and D4Z4 repeat অনুযায়ী Xiao Chen, Zev Kronenberg, Daniel Baker, Joseph Devaney, Jessica Noya, April Berlyoung, Shamila Yusuff, Solomon Lynch, Rhonda Brandon, Kathleen Hruska, Lucas Lochovsky, Amanda Lindy, Egor Dolzhenko, Michael Eberle

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P293: Long read sequencing analysis of 120 samples with known and challenging-to-detect clinical variants অনুযায়ী Joseph Devaney, Jessica Noya, April Berlyoung, Aaron Johnson, Julianna Spangler, Rhonda Brandon, Kathleen Hruska, Lucas Lochovsky, Egor Dolzhenko, Xiao Chen, Michael Eberle, Alexander Robertson, Paul Kruszka, Gustavo Stolovitzky, Scott Newman

সম্পূর্ণ পাঠ পাওয়ার জন্য

O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city অনুযায়ী Wendy Chung, Alban Ziegler, Carrie Koval-Burt, Denise Kay, Sharon Suchy, Amber Bergtrup, Katherine Langley, Laura Amendola, Brenna Boyd, Jennifer Bradley, Tracy Brandt, Lilian Cohen, Alison Coffey, Joseph Devaney, Beata Dygulska, Bethany Friedman, Ramsey Fuleihan, Awura Gyimah, Rebecca Hernan, Sean Hofherr, Kathleen Hruska, Zhanzhi Hu, Mederic Jeanne, Guanjun Jin, Aaron Johnson, Haluk Kavus, Rudolph Leibel, Kirsty McWalter, Kristin Monaghan, Nicole Pimentel Soler, Yeyson Quevedo, Samantha Ratner, Kyle Retterer, Natasha Shapiro, Robert Sicko, Samuel Storm, Rebecca Torene, Olatundun Williams, Julia Wynn, Ryan Taft, Paul Kruszka, Michele Caggana

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A genome-wide association study reveals variants in ARL15 that influence adiponectin levels. অনুযায়ী J Brent Richards, Dawn Waterworth, Stephen O'Rahilly, Marie-France Hivert, Ruth J F Loos, John R B Perry, Toshiko Tanaka, Nicholas John Timpson, Robert K Semple, Nicole Soranzo, Kijoung Song, Nuno Rocha, Elin Grundberg, Josée Dupuis, Jose C Florez, Claudia Langenberg, Inga Prokopenko, Richa Saxena, Robert Sladek, Yurii Aulchenko, David Evans, Gerard Waeber, Jeanette Erdmann, Mary-Susan Burnett, Naveed Sattar, Joseph Devaney, Christina Willenborg, Aroon Hingorani, Jaquelin C M Witteman, Peter Vollenweider, Beate Glaser, Christian Hengstenberg, Luigi Ferrucci, David Melzer, Klaus Stark, John Deanfield, Janina Winogradow, Martina Grassl, Alistair S Hall, Josephine M Egan, John R Thompson, Sally L Ricketts, Inke R König, Wibke Reinhard, Scott Grundy, H-Erich Wichmann, Phil Barter, Robert Mahley, Y Antero Kesaniemi, Daniel J Rader, Muredach P Reilly, Stephen E Epstein, Alexandre F R Stewart, Cornelia M Van Duijn, Heribert Schunkert, Keith Burling, Panos Deloukas, Tomi Pastinen, Nilesh J Samani, Ruth McPherson, George Davey Smith, Timothy M Frayling, Nicholas J Wareham, James B Meigs, Vincent Mooser, Tim D Spector, GIANT Consortium

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